by Peter Ciszewski | Nov 15, 2021
James Cassidy, MD, PhD, Chief Medical Officer at SpringWorks Therapeutics, discusses the ReNeu trial, which is designed to evaluate the safety, effectiveness, and tolerability of mirdametinib in neurofibromatosis type 1 (NF1) patients with inoperable plexiform...
by Peter Ciszewski | Nov 15, 2021
Omar Sinno, MD, Medical Lead of Rare Disease at UCB, discusses why seeing the right specialist is crucial for a quick myasthenia gravis (MG) diagnosis. Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal...
by Peter Ciszewski | Nov 12, 2021
Matthew Klein, MD, MS, FACS, Chief Development Officer at PTC Therapeutics, discusses how the company’s investigational gene therapy, AAV2-hAADC, could impact the aromatic L-amino acid decarboxylase (AADC) deficiency patient population. AADC deficiency is a...
by Peter Ciszewski | Nov 12, 2021
Kevin and Amy Young, parents of a young boy (Jack) who has KAT6A syndrome, provide an overview of the disease. As Mr. and Mrs. Young explain, KAT6A syndrome is an ultra-rare genetic condition caused by a mutation in the KAT6A gene. In most cases this mutation...
by Peter Ciszewski | Nov 11, 2021
Michael Hund, MBA, CEO of Epidermolysis Bullosa Research Partnership (EBRP), talks about the upcoming, 2nd annual Venture into Cures, a digital show featuring a lineup of massive celebrities and stories about EB patients and families. This event will be held...
